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4. Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinism. Fournet JC, Mayaud C, de Lonlay P, Verkarre V, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C. Horm Res; 2000; 53 Suppl 1():2-6. PubMed ID: 10895035 [Abstract] [Full Text] [Related]
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9. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J. Science; 1995 Apr 21; 268(5209):426-9. PubMed ID: 7716548 [Abstract] [Full Text] [Related]
10. The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism. Giurgea I, Sempoux C, Bellanné-Chantelot C, Ribeiro M, Hubert L, Boddaert N, Saudubray JM, Robert JJ, Brunelle F, Rahier J, Jaubert F, Nihoul-Fékété C, de Lonlay P. J Clin Endocrinol Metab; 2006 Oct 21; 91(10):4118-23. PubMed ID: 16882742 [Abstract] [Full Text] [Related]
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18. Characterization of genes encoding the pancreatic beta-cell ATP-sensitive K+ channel in persistent hyperinsulinemic hypoglycemia of infancy in Japanese patients. Someya T, Miki T, Sugihara S, Minagawa M, Yasuda T, Kohno Y, Seino S. Endocr J; 2000 Dec 21; 47(6):715-22. PubMed ID: 11228046 [Abstract] [Full Text] [Related]
19. An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus. Kukuvitis A, Deal C, Arbour L, Polychronakos C. J Clin Endocrinol Metab; 1997 Apr 21; 82(4):1192-4. PubMed ID: 9100595 [Abstract] [Full Text] [Related]
20. Persistent hyperinsulinemic hypoglycemia of infancy. Cohen MM. Am J Med Genet A; 2003 Nov 01; 122A(4):351-3. PubMed ID: 14518075 [Abstract] [Full Text] [Related] Page: [Next] [New Search]